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Journal Abstract Search

182 related items for PubMed ID: 2330259

  • 41. Malformations among the X-linked intellectual disability syndromes.
    Stevenson RE, Schwartz CE, Rogers RC.
    Am J Med Genet A; 2013 Nov; 161A(11):2741-9. PubMed ID: 24166814
    [Abstract] [Full Text] [Related]

  • 42. Tetralogy of Fallot in a patient with Killian-Pallister syndrome.
    Grech V, Parascandalo R, Cuschieri A.
    Pediatr Cardiol; 1999 Nov; 20(2):134-5. PubMed ID: 9986890
    [Abstract] [Full Text] [Related]

  • 43. Kapur-Toriello syndrome: further delineation.
    Yokoyama E, Martínez A, González-Del Angel A.
    Am J Med Genet A; 2008 Nov 01; 146A(21):2791-3. PubMed ID: 18831061
    [Abstract] [Full Text] [Related]

  • 44. Rubinstein-Taybi syndrome.
    Baxter G, Beer J.
    Psychol Rep; 1992 Apr 01; 70(2):451-6. PubMed ID: 1598367
    [Abstract] [Full Text] [Related]

  • 45. [Cerebro-oculo-facio-skeletal (COFS) syndrome].
    Kosuga M, Okuyama T.
    Ryoikibetsu Shokogun Shirizu; 2000 Apr 01; (30 Pt 5):49-50. PubMed ID: 11057139
    [No Abstract] [Full Text] [Related]

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  • 50. Craniofacial and dental characteristics of Kabuki syndrome.
    Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T.
    Am J Med Genet; 2001 Jan 15; 98(2):185-90. PubMed ID: 11223856
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  • 52. A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism.
    Jonsson DI, Ludvigsson P, Aradhya S, Sigurdardottir S, Steinarsdottir M, Hauksdottir H, Jonsson JJ.
    Eur J Med Genet; 2012 Jun 15; 55(6-7):437-40. PubMed ID: 22534424
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  • 55. [Clinical polymorphism of the Waardenburg-Klein syndrome in children].
    Bliumina MG.
    Pediatriia; 1987 Jun 15; (3):78-81. PubMed ID: 3601544
    [No Abstract] [Full Text] [Related]

  • 56. End-stage renal failure in Smith-Magenis syndrome.
    Myers SM, Challman TD, Bock GH.
    Am J Med Genet A; 2007 Aug 15; 143A(16):1922-4. PubMed ID: 17603799
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  • 58. Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
    Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM.
    Hum Genet; 2015 Jun 15; 134(6):577-87. PubMed ID: 25792360
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  • 59. Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.
    van Balkom ID, Shaw A, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC.
    J Intellect Disabil Res; 2011 Oct 15; 55(10):973-87. PubMed ID: 21790824
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  • 60. Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review.
    Nardello R, Mangano GD, Antona V, Fontana A, Striano P, Giorgio E, Brusco A, Mangano S, Salpietro V.
    Seizure; 2021 Feb 15; 85():151-154. PubMed ID: 33476899
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